My granddaughter was born 4 weeks premature and has been diagnosed with a pulmonary stinosis. The cardiologist has said that the poor feeding has nothing to do with the heart condition and has recommended that baby be tested for Noonans Syndrome. I do not recognise any of the symptoms, ie, droopy eyes, curly hair chest deformity in this baby although blood tests have been taken. Has anyone had difficulty in feeding a baby with this condition.
Unfortunatly noonans syndrome is often called a hidden condition. Not all persons with noonans present with the same characteristics. It is so variable. Do the testing and go from there. Good luck.
it could be a number of things. It could be because of her heart issue depends how severe her case is or It could be because she was born 4 weeks premature (my son was born 6 weeks and he had no sucking reflexes so breastfeeding was difficult, we had to syringe feed him for a couple days) he has no heart defect though, he does have Noonan. My daughter on the other hand does have PS and an ASD an Noonan. Her PS was Severe. I had issues with feeding her as well and with her turning blue and the doctor wanted to push it off as colic. Unfortunately that was not the case for us, we got a 2nd opinion and was told she was in the beginning phases of heart failure.
If you are not really satisfied with your current doc I would find someone new.
HTH and Good Luck!
I am so grateful for the supporting comments which I have received so soon after posting my question regarding Noonan’s. I am trying not to look on the negative but it is very worrying when these conditions are suggested. My granddaughter does have quite a good sucking reflex but just does not seem able to get past 60/70 mls of formula and has to be topped up to what the professionals say is the required amount for her age and weight. The problem then is that she vomits quite a bit of the feed back as I don’t think her little tummy can take the extra volume. I have another grown up daughter of 41 who was born with a more complicated heart disorder but little was know of Noonans at that time as I note it was only first diagnosed in 1963. I had great difficulty feeding my little baby and experienced many hours of feeding for her to vomit back quite a lot of what it had taken me hours to give her. There was no suggestion at that time that she should be tested for Noonans as it was virtually unknown as far as I was concerned. I am trying to get as much information as I can so that I can be in a position to give my daughter all the support she needs right now. Photographs have been taken by the doctors of my daughter, husband and new born baby and I suppose they are looking for any facial features which may indicate a genetic similarity. I will wait for the outcome of the various tests and see what develops. I will, of course, post any information I get which might be helpful to others when and if this becomes available to me. Many thanks again for the response and Good Luck and God Bless to all those who are affected by Noonans. Kindest regards, Marj
Hi my son Connor was 6 wks prem and weighed in at 7lbs 3ozs. He also had great difficulty in feeding. He had 2 holes in his heart and a large liver and left kidney. You can find his story at www.caringbridge.org/visit/connorrobinson. Connor is 14yrs now and has came a long way but I do remember the feeding issues. Today he still has eating problems. I am here if you would like to chat.
Lynda
Hello Marj,
I too have a 3 year old son with NS. Can I recommend to you to join the
official Noonan Support Group. You can subscribed to their email
listserve by visiting their website www.noonansyndrome.org and following
the links. There are over 300 members, whose experience and knowledge
and support are invaluable. Please let me know if you need any help in
doing this.
With warm regards,
Jenni in Australia
Tamarmarj wrote:
Hello Jenni, thank you for taking the time to write to me and I will certainly take your advice and will pass on the link also to my daughter and son-in-law. It is all very uncertain at the moment and blood samples have been taken and will be analysed but it all takes time and in the meantime the family are trying to remain positive. Baby Laura is to see the cardiologist again in 5 weeks time to determine whether she just has the pulmonary stinosis or whether there is further defects in her heart. I am praying that there is not. I have also found a very informative website and have downloaded their free booklet. The website is called Newlife and the address is www.bdfnewlife.co.uk and if you do not already know of it, it might be of some help to you also. I am amazed that I have had responses from such far away places in relation to Noonans because I had not heard of the condition until baby Laura was born and it was suggested that she might have some of the symptoms. My daughter did have a lot of fluid around the baby when she was pregnant and the scans did show that the baby’s tummy was larger than normal although the Syndrome was not mentioned before her birth. I have noted that other Mums have mentioned the excess fluid and this has given me to think that this could be a common denominator in diagnosis of the condition, although I could be totally wrong. The other common symptom seems to be the poor feeding, although this could be a combination of the Noonans and the heart problem. I intend to do what I can to gain as much information about the condition so that I am able to understand the problems she may encounter. It gives me comfort to know that there are others all over the world who share my concern. Good luck with your little one. Kindest regards, Marj
Hello again Marj,
I am glad I could be of some help. Feeding issues are most definitely a
problem in NS infants. Has it been explained to you that only up to 50%
of NS cases can be confirmed through genetic testing? There have been
4-5 genes found which can be responsible for the syndrome, yet only 50%
of NS children carry these particular gene defects. Some of the gene
defects are familial (passed on through the parents), but yet again,
another 50% are classed as sporadic mutations, which means there is no
clear cause for the gene defect. Lachlan has tested positive for one of
the most popular mutations, the PTPN11 mutation. He too has Pulmonary
Valve Stenosis, had open heart surgery to remove his pulmonary valve in
2006, and has Hypertrophic Cardiomyopathy. He also had feeding issues,
reflux, poor weight gain as well as nearly 90% of the other
characteristics of NS, including the undescended testes and inguinal
hernias, which he has since had surgery to repair. I also had
polyhydramnios (extra amniotic fluid) when pregnant with him, and right
from my 20 week scan, they knew he had some problems. His kidneys and
liver were also enlarged, he was born in heart failure, not breathing
and had to be ventilated, spent his first 3 weeks in NICU after birth.
His heart problems were not picked up until after 3 months of age and
continued to worsen as he got older, until it got to the stage where he
needed the open heart surgery. I have a wealth of knowledge and
experience with NS myself, I have educated a lot of Dr’s, nurses and
medical students on the syndrome, as not a lot of them have heard of
it. Lachlan was actually used as a case study whilst in hospital for 8
weeks for his open heart surgery, as he had so many of the
characteristics and medical problems associated with NS, and also had
lymphatic problems, developed a chylothorax, and has the characteristic
bleeding problems, which turned out to be a platelet function disorder.
3 of the medical students used Lachy as their case study for their
thesis for final exams, and presented their thesis to another 100+
medical students at the hospital whilst we were there - it was so good
knowing that all those “Doctor’s to be” now know about NS.
Please feel free to email me anytime if you have any questions or
concerns. You can also visit Lachlan’s web page at
www.caringbridge.org/visit/lachy which lists his past medical history in
detail under the “My Story” tab, and in his ongoing journal.
With warmest regards to you and big hugs.
Jenni
Tamarmarj wrote:
Hi everyone,
I have mostly set back and read in the past. I do have children with NS however I have had 2 nephews with it. Both came from the same mother however different fathers( has diagnostic testing determined that it is passed through the mother? It seems to me that should be the case since my nephews have different fathers. Both of my nephews were born with pulmonary stinosis however the first child also was blind, deaf and his diaphram has also not correctly in place( when he was breathing instead of it expanding with his lungs it reversed it self.) Unfortunately this child did not survive past three months of age. He went into cardiac arrest on several occasions and lived his whole life in NICU till 24 hrs before his passing. I hope this does not scare or depress any of the parents here.
However my nephew Sam is now 6 yo and does have the pulmonary stinosis and is doing relatively well. He does have vision problems and some delays but otherwise ok. he has had 2 heart surgeries since birth and none since age 1. He also has Nuerofibramatosis. I am not sure if this is related though both babies had it but I think that is just an add on from his mother. All of the grandchildren in our family have it except for my 4 children.
I just wanted to put my 2 cents worth in. I mainly watch this group to pass on info to my mother in law. She has monitored the issues more than his mother. She seems to have the ostrich syndrome( if I close my eyes it will go away sort of thing) wich drives me nuts since I have my own children with genetic disorders and I crave info myself.
Denise
----- Original Message ----
From: jellybean1974 noonan-cpt8767@lists.careplace.com
To: minniemouse27_2000@yahoo.com
Sent: Friday, April 25, 2008 9:44:55 PM
Subject: Re: [noonan] Pulmonary Stinosis & poor feeding newborn
Hi again Jenni, My your little one has had some major problems hasn’t he? I admire your tenacity in coping with all that he and you have suffered. I understand from my daughter that baby Laura’s blood clotting ability is fine as they have had those results back. However, it seems it is going to take many weeks before they can determine whether she has NS. In the meantime, her heart will be checked over again and my daughter has told me that if her feeding does not improve in the immediate future, a full MRI scan will be done. It is such a shame to see one so very young having to undergo all these tests and I am hoping and praying that her feeding is associated only with her heart condition and that she does not have NS. I will give all the information I have gained from our contact over the web and I am very grateful that you have kindly offered further assistance should it be required. Many thanks, Kindest regards to you all.
Hi Tamarmarj
Im a slt/slp who works with babies/children with eating and drinking difficulties. Does your little one see a speech therapist/pathologist for her feeding? I dont have knowledge about noonans but do see babies with cardiac conditions and feeding difficulties. usually they tire during feeding because it is such an effort. Does your grandaughter fall asleep half way through feeding? How long do feeds take? Does she suck on a dummy?
Hopefully she is making progress now since you write in April!
HI, Thank you for responding to my message. My granddaughter is now feeding a lot better but does go to sleep half way through her bottle and sometimes it is very difficult to get her to take the remainder. She is, however, gaining weight and currently weighs 10lbs. 11 ozs which we see as a positive sign. She has a pulmonary stinosis which is being monitored and the cardiac specialist will be seeing her again in August. Baby is now smiling and seems to be very content. Some of the tests have come back negative but there is one more which we expect results back in August. She did see a speech therapist when she was only a few weeks old and it was thought that everything was o.k. She does tend to stick her tongue out rather a lot and has a rather thick white coating which is definitely not thrush because she has had various tests to try and identify what it is. In the early days she was given medication to try and treat it but it still remains. None of the medics seem to feel it is anything to worry about and that in time it will go itself because there is no infection. It has been such a stressful time for baby Laura’s Mummy and Daddy as there does not seem a day when they haven’t been worrying about her and whether she is getting enough feed. I am still feeling very positive about the situation and have put my faith in a higher authority. She is doing fine at the moment and we have to be grateful for that. Kindest regards, Marj
The features you have described are very hard to recognize on a newborn. YOu may look for posteriorly rotated low set ears and a low hairline with a thickened neck (in the back). When my daughter was born, (also four weeks early) it was really hard for me to tell anything was wrong. The testing did reveal she had Noonan syndrome. I know the features may change over time, although some children display very little features. My daughter did not have the sunken chest or the wide set nipples and alot of these features, but she did have the low ears that were rotated back. Good luk with your new little grandchild and God bless!
Sarah Masse Mommy to Sydney (ns kras mutation) and Dylan (5)
Hi SydneyLauren, Thank you for your message. Baby Laura has been at my home today with her little brother, Thomas. I look at this little girl and wonder if she really has got NS as she appears to be so normal. She is smiling, taking her feeds a lot better than she did at the begining, is gaining weight and appears to be content. Next week Her mummy is taking her back to the cardiologist for another routine examination and she has an appointment with the physiotherapist but still no results in relation to the NS. We wonder where the past 4 months have gone but obviously we have been spending most of that time keeping a close eye on baby Laura monitoring her progress and hoping and praying that she will not present with any of the more obvious symptoms of NS. It has all been an awful strain on the family and my heart goes out to any parent with a child with more severe symptoms of this genetic disorder. All we can do not is wait for the next set of test results and continue to give her lots of love and attention. Kindest regards, Marj
Hi Everyone, It has now been confirmed that baby Laura does have Noonan’s Syndrome. However, she continues to progress well and is a happy and contented strong little girl with the most beautiful blue eyes. There does not appear to be any other facial features associated with NS at present but they may develop over a period of time, we will just have to wait and see. She does appear to catch colds and coughs quite easily but she does have a 3 year old brother who is at nursery and seems to bring all sorts of germs home with him. Laura’s parents have been for blood tests to try and determine who, if any one of them is carrying the gene or whether it is just an unfortunate quirk of nature and Laura is the first in the family to have the condition. It is a little worrying as I note from other messages that in a lot of cases siblings are also affected by NS. It seems to be a waiting game with NS and children can present with varying degrees of symptoms and characteristics. The past 6 months have been a learning curve for me as I was not aware of the condition at all until my Granddaughter was born in March of this year. I will continue to post progress on the careplace as it might help others to be more objective and we will all gain more knowledge as time goes on. God Bless, kindest regards, Marj
My husband was just diagnosed with NS and has been living with it for about 30yrs now. He has PS and has had 3 open heart surgeries so far and coming up for another one in 2009 to have the Pulmonary Valve stay open and allow enough blood flow but they can not keep the blood flow going they have tried the stent in 2007 and within 6mths started to close again. My son of 3 1/2 mths was also diagnosed with NS the only problems we are experiencing right now is the Left Eye has a cyst in the tear duct which is also blocking oxygen from the nose he has had 3 ear infections already and conjunctivitus his eating is getting slower. i have been doing alot of internet reading on NS and have learned that poor feeding of the babies and also reading the comments others have made on the feeding its been really helpful thanks. Nothing is impossible for GOD! <>
Hi Momtoanoonie
Have you considered chiropractic treatments for your son’s ear infections? We’ve been taking our daughter since she was a week old. Our chiropractor is amazing and Lauren has been thriving (as does her older brother).
I believe it helps keep her healthy and have a friend who swears by it for her son - he was on a lot of medication for ear infections and they were scheduled for surgery. She opted for chiropractic instead and was amazed when the infections stopped and his health improved dramatically.
You have to find someone really good though that you trust who has pediatric experience… they have a little device that resembles an oversized cherry pitter that can be used instead of manual adjustments…
Just a thought. Hang in there!
~Robyn
— On Sun, 10/12/08, momtoanoonie noonan-cpt8767@lists.careplace.com wrote:
From: momtoanoonie noonan-cpt8767@lists.careplace.com
Subject: Re: [noonan] Pulmonary Stinosis & poor feeding newborn
To: dictatorqueen@ymail.com
Received: Sunday, October 12, 2008, 3:05 AM
So i was told by the cardiologist Aaron will eventually have to have his pulmonary valve replaced. He is doing well but i guess there is more leakage in his valve than his visit last year. He had a valve repair at 11 months and i figured maybe we had quite a few more years. So I am starting to research different replacement prodedures. They also mentioned a new technology where they can actually do the valve replacement in the cath lab now (as opposed to open heart surgery). Has anybody heard of this? I am very interested in finding out more about it.
I will look into that thank you so much…
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Zayra DelToro <><
Wait on the Lord,and he shall strength thine heart.
Psalm 27:14
From: LaurensMum noonan-cpt8767@lists.careplace.com
To: devin_elijah_zay@yahoo.com
Sent: Sunday, November 2, 2008 6:29:17 PM
Subject: Re: [noonan] Pulmonary Stinosis & poor feeding newborn
Lives Simple In CO: Where are you in Colorado? Are you going through Childrens in Denver or are you going elsewhere? My nephew just had an irregular EKG after having some chest pain when he was sick plus my MIL was informed he will have to have surgery again BUT they want to wait till he is about 14(he is now 7)because they feel the older he is the better his chances are. Our issues are also compounded by his NF so he seems to have 2x the chances for damage to his heart.
Denise